ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5842+8G>A

gnomAD frequency: 0.00009  dbSNP: rs781168906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554648 SCV000651093 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311841 SCV004010724 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing FLNC: BP4, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525972 SCV005039587 benign not specified 2024-03-11 criteria provided, single submitter clinical testing

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